Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.

Objective: This study aimed to clarify the genetic diagnosis of rhegmatogenous retinal detachment (RRD) secondary to type I Stickler syndrome (STL1) and evaluate the anatomical and functional outcomes of surgical treatment.

Methods: This retrospective study included 11 patients with RRD secondary to STL1. Familial and sporadic cases of STL1 were diagnosed at the Eye & ENT Hospital, Fudan University, between 2017 and 2023.

Clinical and mutational signatures of -associated retinopathies: a multicentre study.

Background: To delineate the clinical and mutational signatures of patients with -associated retinopathies.

Methods: This multicentre retrospective cohort study involved 40 patients with mutations and 40 age-matched and gender-matched inherited retinal diseases (IRDs). The detailed phenotyping and genotyping characteristics and genotype‒phenotype correlations of the patients were analysed.

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of .

This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests.

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome.

Purpose: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the ( (). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment abnormalities, including retinal detachment (RD), maculopathy, and posterior staphyloma (PS). This study aims to investigate the correlations between genotype and posterior segment abnormalities within a Chinese cohort of MFS.

Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

Background: To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible mechanism of a repeated novel intronic variant in TSPAN12 led to FEVR.

Results: Nine TSPAN12 mutations with a unique form of FEVR were detected by panel-based NGS. MINI-Gene assay showed two splicing modes of mRNA that process two different bands A and B, and mutant-type shows replacement with the splicing mode of Exon11 hopping.

Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.

Purpose: This study aimed to ascertain the occurrence of foveal hypoplasia (FH) in individuals diagnosed with familial exudative vitreoretinopathy (FEVR).

Design: Retrospective cohort study.

Methods: In this study, FEVR families and sporadic cases were diagnosed at the Eye and ENT Hospital, Fudan University, between 2017 and 2023.

Updating Understanding of Macular Microvascular Abnormalities and Their Correlations With the Characteristics and Progression of Macular Edema or Exudation in Coats' Disease.

Objective: To investigate the associations of macular microvascular abnormalities with the characteristics and progression of macular edema or exudation in Coats' disease, toward an updated understanding of possible risk factors for macular edema or exudation.

Methods: Twenty-six eyes (26 patients) with Coats' disease and macular edema or exudation underwent multimodal imaging and were followed for 18 months. The eyes were classified according to their outcomes (refractory or improved).